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GENATLAS PHENOTYPE

last update : 06-06-2019

Symbol	GDD
Location	11p14.3
Name	gnathodiaphyseal dysplasia
Other name(s)	osteogenesis imperfecta with unusual skeletal lesions gnathodiaphyseal sclerosis
Corresponding gene	ANO5
Main clinical features	rare skeletal syndrome, characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	transmembrane protein 16E

Remark(s)